Linked Data
dbSNP Id:
rs2100739342
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.58782565_58782573del , CM000663.2:g.58782565_58782573del | GRCh38 |
| NC_000001.10:g.59248237_59248245del , CM000663.1:g.59248237_59248245del | GRCh37 |
| NC_000001.9:g.59020825_59020833del | NCBI36 |
| NG_047027.1:g.6541_6549del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710273.1:c.564_572del | ENSP00000518166.1:p.Glu188_Val191delinsAsp | |
| ENST00000371222.4:c.498_506del MANE Select | ENSP00000360266.2:p.Glu166_Val169delinsAsp | |
| ENST00000678696.1:c.498_506del | ENSP00000503132.1:p.Glu166_Val169delinsAsp | |
| ENST00000371222.3:c.498_506del | ENSP00000360266.2:p.Glu166_Val169delinsAsp | |
| NM_002228.3:c.498_506del | NP_002219.1:p.Glu166_Val169delinsAsp | |
| NM_002228.4:c.498_506del MANE Select | NP_002219.1:p.Glu166_Val169delinsAsp |